rs121917901

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121917901(C;T)

Make rs121917901(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

49478437

Gene

ERCC6

is a	snp
is	mentioned by
dbSNP	rs121917901
dbSNP (classic)	rs121917901
ClinGen	rs121917901
ebi	rs121917901
HLI	rs121917901
Exac	rs121917901
Gnomad	rs121917901
Varsome	rs121917901
LitVar	rs121917901
Map	rs121917901
PheGenI	rs121917901
Biobank	rs121917901
1000 genomes	rs121917901
hgdp	rs121917901
ensembl	rs121917901
geneview	rs121917901
scholar	rs121917901
google	rs121917901
pharmgkb	rs121917901
gwascentral	rs121917901
openSNP	rs121917901
23andMe	rs121917901
SNPshot	rs121917901
SNPdbe	rs121917901
MSV3d	rs121917901
GWAS Ctlg	rs121917901

Max Magnitude

0

OMIM	609413
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121917901(T;T)
Alt	rs121917901(T;T)
Reference	Rs121917901(C;C)
Significance	Pathogenic
Disease	Cockayne syndrome B DE SANCTIS-CACCHIONE SYNDROME ERCC6-Related Disorders
Variation	info
Gene	ERCC6
CLNDBN	Cockayne syndrome B DE SANCTIS-CACCHIONE SYNDROME ERCC6-Related Disorders
Reversed	1
HGVS	NC_000010.10:g.50686483G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001769.5, RCV000001770.5, RCV000406377.1,